Variant report

Variant	rs34822124
Chromosome Location	chr17:46648679-46648680
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:46648452..46650597-chr17:46655694..46657382,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000257178	Chromatin interaction
ENSG00000120093	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1042818	0.90[AMR][1000 genomes]
rs1042822	0.90[AMR][1000 genomes]
rs1062037	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1123630	0.80[EUR][1000 genomes]
rs12951076	0.93[AMR][1000 genomes]
rs2229302	0.90[AMR][1000 genomes]
rs34490194	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34527992	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35624684	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35825473	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4793589	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4793937	0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4793938	0.80[EUR][1000 genomes]
rs4793939	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4793943	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56115209	0.83[AMR][1000 genomes]
rs56128659	0.93[AMR][1000 genomes]
rs66459980	0.80[EUR][1000 genomes]
rs67412921	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs872760	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833469	chr17:46491849-46709406	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	349 gene(s)	inside rSNPs	diseases
2	esv3420538	chr17:46504944-46861553	Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	369 gene(s)	inside rSNPs	diseases
3	nsv908577	chr17:46584900-46704536	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	343 gene(s)	inside rSNPs	diseases
4	nsv908578	chr17:46592413-46698710	Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	335 gene(s)	inside rSNPs	diseases
5	nsv908579	chr17:46592413-46727289	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	349 gene(s)	inside rSNPs	diseases
6	nsv532113	chr17:46598247-47588570	Genic enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	453 gene(s)	inside rSNPs	diseases
7	esv2758459	chr17:46602673-46836837	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	364 gene(s)	inside rSNPs	diseases
8	esv2758694	chr17:46602673-46836837	Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	364 gene(s)	inside rSNPs	diseases
9	nsv908580	chr17:46609103-46698710	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	335 gene(s)	inside rSNPs	diseases
10	nsv908581	chr17:46610646-46735520	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	349 gene(s)	inside rSNPs	diseases
11	nsv575480	chr17:46617019-46684929	Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
12	nsv908582	chr17:46617019-46698710	Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Weak transcription Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	334 gene(s)	inside rSNPs	diseases
13	nsv908583	chr17:46617019-46704536	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	342 gene(s)	inside rSNPs	diseases
14	nsv833471	chr17:46617787-46783345	Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	356 gene(s)	inside rSNPs	diseases
15	nsv908584	chr17:46618926-46735520	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	348 gene(s)	inside rSNPs	diseases
16	nsv457822	chr17:46620402-46698710	Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	334 gene(s)	inside rSNPs	diseases
17	nsv575481	chr17:46620402-46698710	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	334 gene(s)	inside rSNPs	diseases
18	nsv457823	chr17:46620402-46704536	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	342 gene(s)	inside rSNPs	diseases
19	nsv575482	chr17:46620402-46704536	Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	342 gene(s)	inside rSNPs	diseases
20	nsv457824	chr17:46625519-46693491	Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	332 gene(s)	inside rSNPs	diseases
21	nsv575483	chr17:46625519-46693491	Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	332 gene(s)	inside rSNPs	diseases
22	esv1007307	chr17:46638901-46653131	Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs34822124	HOXB2	cis	Thyroid	GTEx
rs34822124	HOXB2	cis	Adipose Subcutaneous	GTEx
rs34822124	HOXB-AS1	cis	Whole Blood	GTEx
rs34822124	HOXB2	cis	Whole Blood	GTEx

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46635000-46654600	Weak transcription	Hela-S3	cervix
2	chr17:46641200-46649000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
3	chr17:46644600-46652200	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr17:46644600-46654200	Weak transcription	Spleen	Spleen
5	chr17:46645200-46650200	Weak transcription	A549	lung
6	chr17:46645800-46649600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr17:46645800-46649600	Bivalent Enhancer	Fetal Muscle Leg	muscle
8	chr17:46645800-46652200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr17:46646400-46652000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
10	chr17:46646400-46654800	Transcr. at gene 5' and 3'	Fetal Stomach	stomach
11	chr17:46646600-46650200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr17:46647200-46649600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr17:46647200-46649600	Flanking Active TSS	HUVEC	blood vessel
14	chr17:46647400-46648800	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
15	chr17:46647400-46649000	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
16	chr17:46647400-46649200	Flanking Active TSS	Adipose Nuclei	Adipose
17	chr17:46647400-46649200	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
18	chr17:46647400-46649200	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
19	chr17:46647400-46649600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr17:46647400-46653600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
21	chr17:46647600-46648800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
22	chr17:46647600-46648800	Active TSS	NHDF-Ad	bronchial
23	chr17:46647600-46649000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
24	chr17:46647600-46649000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
25	chr17:46647600-46649000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr17:46647600-46649000	Active TSS	Aorta	Aorta
27	chr17:46647600-46649400	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr17:46647600-46650000	Active TSS	Rectal Mucosa Donor 29	rectum
29	chr17:46647800-46648800	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr17:46647800-46648800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr17:46647800-46649600	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr17:46648000-46648800	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr17:46648000-46649200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
34	chr17:46648000-46649200	Transcr. at gene 5' and 3'	K562	blood
35	chr17:46648000-46651000	Transcr. at gene 5' and 3'	NHLF	lung
36	chr17:46648200-46649000	Active TSS	Colon Smooth Muscle	Colon
37	chr17:46648200-46649400	Transcr. at gene 5' and 3'	Fetal Kidney	kidney
38	chr17:46648200-46649800	Bivalent/Poised TSS	Fetal Intestine Large	intestine
39	chr17:46648200-46650200	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr17:46648200-46650400	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr17:46648400-46648800	Flanking Bivalent TSS/Enh	ES-WA7 Cell Line	embryonic stem cell
42	chr17:46648400-46648800	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
43	chr17:46648400-46648800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr17:46648400-46648800	Transcr. at gene 5' and 3'	HSMM	muscle
45	chr17:46648400-46649400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
46	chr17:46648400-46650000	Flanking Bivalent TSS/Enh	Fetal Lung	lung
47	chr17:46648400-46651000	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
48	chr17:46648400-46652400	Weak transcription	HSMMtube	muscle
49	chr17:46648600-46648800	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
50	chr17:46648600-46648800	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived

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